ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.376A>G (p.Ile126Val)

dbSNP: rs150341415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053018 SCV001217259 uncertain significance Combined oxidative phosphorylation defect type 27 2022-05-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 849127). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 126 of the CARS2 protein (p.Ile126Val).
Ambry Genetics RCV002553304 SCV003668275 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.376A>G (p.I126V) alteration is located in exon 3 (coding exon 3) of the CARS2 gene. This alteration results from a A to G substitution at nucleotide position 376, causing the isoleucine (I) at amino acid position 126 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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